Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype

J P Fryns; A Kleczkowska; H Kenis; P Decock; H Van den Berghe

Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype

Ann Genet. 1989;32(3):174-6.

Authors

J P Fryns¹, A Kleczkowska, H Kenis, P Decock, H Van den Berghe

Affiliation

¹ Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

PMID: 2573314

Abstract

In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Chromosome Aberrations / genetics*
Chromosome Aberrations / pathology
Chromosome Disorders
Chromosomes, Human, Pair 2 / ultrastructure*
Cryptorchidism / genetics
Face / abnormalities
Humans
Infant, Newborn
Intellectual Disability / genetics*
Limb Deformities, Congenital
Male
Phenotype
Syndrome
Trisomy*